Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.
Kimura-Yoshida A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation.
Corona-Rivera JR et al.
American Journal of Medical Genetics. Part A, 2013
Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia.
Zhao L et al.
Developmental Cell, 2012
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
McCabe MJ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
Parent-of-origin effects in SOX2 anophthalmia syndrome.
Osborne RJ et al.
Molecular Vision, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Reis LM et al.
Molecular Vision, 2010
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
Kelberman D et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
The role of SOX2 in hypogonadotropic hypogonadism.
Tziaferi V et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P et al.
The British Journal of Ophthalmology, 2007
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
Kelberman D et al.
The Journal of Clinical Investigation, 2006
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.
Zenteno JC et al.
Clinical Genetics, 2005
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
Hagstrom SA et al.
American Journal of Medical Genetics. Part A, 2005
SOX2 anophthalmia syndrome.
Ragge NK et al.
American Journal of Medical Genetics. Part A, 2005